Hypophosphatasia: identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients.
Goseki-Sone
M
M
Department of Biochemistry, Faculty of Dentistry, Tokyo Medical and Dental University, Japan.
Orimo
H
H
Iimura
T
T
Takagi
Y
Y
Watanabe
H
H
Taketa
K
K
Sato
S
S
Mayanagi
H
H
Shimada
T
T
Oida
S
S
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000469:Alkaline Phosphatase / Q000235:genetics*; D019943:Amino Acid Substitution; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007014:Hypophosphatasia / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D007564:Japan; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational
D004247:DNA; D000469:Alkaline Phosphatase